Englisch

This sample attributes table includes sample histological type, tumor status, clone and passage number of cell lines, method used to generate iPSCs, analyte type, sample source, genotyping center, sequencing center, array version, array coordinates (n=2 variables; Illumina and paired germline sample), differentiation protocol, chromatin based assay, and indicators if sample was part of a study/paper (n=11 variables; iPSCORE resource, aberrant iPSC methylation in twins, eQTL, allele-specific NKX2-5 binding in iPSC-CMs, Hi-C in iPSCs and iPSC-CMs, mutational burden of iPSCs, iPSC-derived retinal pigment epithelium, structural variation in iPSCORE, lncrnas in iPSC-CMs, differentiation of iPSCs to iPSC-CMs or cardiovascular precursor cells (CVPC), and co-accessibility between ATAC sites within iPSCs), other IDs (n=4 variables; UCSD source tissue, UCSD iPSC clone, UCSD differentiation, WiCell), and sample group as used in iPSCORE resource paper.

6 Formulare  
  1. StudyEvent: SEV1
    1. Eligibility Criteria
    2. The subject consent data table contains subject IDs, consent information, and pooled subject IDs.
    3. This pedigree data table contains family relationships in the format of family IDs, subject IDs, father IDs, mother IDs, subjects's sex, twin IDs, and indicator for monozygotic and dizygotic twins.
    4. This data table contains mapping of study subject IDs to sample IDs. Samples are the final preps submitted for genotyping, sequencing, and/or expression data. For example, if one patient (subject ID) gave one sample, and that sample was processed differently to generate 2 sequencing runs, there would be two rows, both using the same subject ID, but having 2 unique sample IDs.
    5. This subject phenotype table includes subject's sex, age at enrollment, race (n=3 variables; self-reported, race/ethnicity grouped by researcher, and genetically similar population groups), heart diagnoses (n=5 variables; primary diagnoses and classification, other diagnoses, comments, and disease ontology), IPSCORE IDs, and indicators if subject was part of a study/paper (n=10 variables; iPSCORE resource, aberrant iPSC methylation in twins, WGS, eQTL, allele-specific NKX2-5 binding in iPSC-CMs, Hi-C in iPSCs and iPSC-CMs, mutational burden of iPSCs, iPSC-derived retinal pigment epithelium, structural variation in IPSCORE, and lncrnas in iPSC-CMs).
    6. This sample attributes table includes sample histological type, tumor status, clone and passage number of cell lines, method used to generate iPSCs, analyte type, sample source, genotyping center, sequencing center, array version, array coordinates (n=2 variables; Illumina and paired germline sample), differentiation protocol, chromatin based assay, and indicators if sample was part of a study/paper (n=11 variables; iPSCORE resource, aberrant iPSC methylation in twins, eQTL, allele-specific NKX2-5 binding in iPSC-CMs, Hi-C in iPSCs and iPSC-CMs, mutational burden of iPSCs, iPSC-derived retinal pigment epithelium, structural variation in iPSCORE, lncrnas in iPSC-CMs, differentiation of iPSCs to iPSC-CMs or cardiovascular precursor cells (CVPC), and co-accessibility between ATAC sites within iPSCs), other IDs (n=4 variables; UCSD source tissue, UCSD iPSC clone, UCSD differentiation, WiCell), and sample group as used in iPSCORE resource paper.
pht006324
Beschreibung

pht006324

Alias
UMLS CUI [1,1]
C3846158
De-identified unique Sample ID
Beschreibung

SAMPLE_ID

Datentyp

string

Alias
UMLS CUI [1,1]
C4684638
UMLS CUI [1,2]
C2348585
Cell or tissue type or subtype of sample
Beschreibung

HISTOLOGICAL_TYPE

Datentyp

string

Alias
UMLS CUI [1,1]
C2347026
UMLS CUI [1,2]
C0007634
UMLS CUI [1,3]
C0332307
UMLS CUI [2,1]
C2347026
UMLS CUI [2,2]
C0007634
UMLS CUI [2,3]
C0449560
UMLS CUI [3,1]
C1292533
UMLS CUI [3,2]
C0332307
UMLS CUI [4,1]
C1292533
UMLS CUI [4,2]
C0449560
Tumor status
Beschreibung

IS_TUMOR

Datentyp

text

Alias
UMLS CUI [1,1]
C0475752
Original clone number from which cell line was expanded
Beschreibung

CLONE

Datentyp

string

Alias
UMLS CUI [1,1]
C0237753
UMLS CUI [1,2]
C0205313
UMLS CUI [1,3]
C1522642
UMLS CUI [1,4]
C0007600
Passage number of cell line which was analysed
Beschreibung

PASSAGE

Datentyp

string

Alias
UMLS CUI [1,1]
C0237753
UMLS CUI [1,2]
C0007600
UMLS CUI [1,3]
C0936012
Differentation protocol used for iPSC-derived samples
Beschreibung

DIFFERENTIATION_PROTOCOL

Datentyp

string

Alias
UMLS CUI [1,1]
C1507394
UUID Identifier for iPSC clone. If the cell is an iPSC-derived cell type, this indicates the source clone.
Beschreibung

UCSD_IPSC_CLONE_ID

Datentyp

string

Alias
UMLS CUI [2,1]
C1710569
UMLS CUI [2,2]
C2717959
UMLS CUI [2,3]
C1522642
UMLS CUI [2,4]
C0449475
UMLS CUI [2,5]
C0449416
The technology used to generate induced pluripotent stem cells (iPSCs)
Beschreibung

REPROGRAMMING_METHOD

Datentyp

string

Alias
UMLS CUI [1,1]
C0039421
UMLS CUI [1,2]
C0220824
UUID Identifier for tissue sample of fibroblast, blood or iPSC
Beschreibung

UCSD_SOURCE_TISSUE_ID

Datentyp

string

Alias
UMLS CUI [1,1]
C1710569
UMLS CUI [1,2]
C0016030
UMLS CUI [1,3]
C0178913
UMLS CUI [1,4]
C2717959
For differentiated samples, this indicates the differentiation replicate
Beschreibung

UCSD_DIFFERENTIATION_ID

Datentyp

string

Alias
UMLS CUI [1,1]
C2945687
UMLS CUI [1,2]
C1883725
WiCell identifier assigned to iPSC line archived at WiCell Research Institute, Wisconsin, USA
Beschreibung

WICELL_ID

Datentyp

string

Alias
UMLS CUI [1,1]
C0600091
UMLS CUI [1,2]
C2717959
UMLS CUI [1,3]
C0007601
Analyte Type
Beschreibung

ANALYTE_TYPE

Datentyp

string

Alias
UMLS CUI [1,1]
C4744818
The type of assay performed for chromatin-based assays
Beschreibung

CHROMATIN_ASSAY_TYPE

Datentyp

string

Alias
UMLS CUI [1,1]
C0005507
UMLS CUI [1,2]
C0332307
Organisation providing original sample
Beschreibung

SAMPLE_SOURCE

Datentyp

string

Alias
UMLS CUI [1,1]
C1547541
UMLS CUI [1,2]
C1999230
Name of the center which conducted genotyping
Beschreibung

GENOTYPING_CENTER

Datentyp

text

Alias
UMLS CUI [1,1]
C1301943
UMLS CUI [1,2]
C0565990
UMLS CUI [1,3]
C1285573
Name of the center which conducted sequencing
Beschreibung

SEQUENCING_CENTER

Datentyp

text

Alias
UMLS CUI [1,1]
C1301943
UMLS CUI [1,2]
C0565990
UMLS CUI [1,3]
C1561491
Version of array
Beschreibung

ARRAY_VERSION

Datentyp

string

Alias
UMLS CUI [1,1]
C1510941
UMLS CUI [1,2]
C0333052
Array number and coordinates for arrays
Beschreibung

ILLUMINA_ARRAY_COORDINATES

Datentyp

string

Alias
UMLS CUI [1,1]
C1510941
UMLS CUI [1,2]
C0237753
UMLS CUI [1,3]
C0681930
ILLUMINA_ARRAY_COORDINATES of paired germline sample for iPSC
Beschreibung

MATCHED_GERMLINE_ARRAY

Datentyp

string

Alias
UMLS CUI [1,1]
C0200345
UMLS CUI [1,2]
C3845275
Indicator for whether sample was part of iPSCORE resource paper (PMID 28410642)
Beschreibung

SUBSTUDY_iPSCORE_RESOURCE

Datentyp

float

Alias
UMLS CUI [1,1]
C1522602
UMLS CUI [1,2]
C1292711
UMLS CUI [1,3]
C0035201
UMLS CUI [1,4]
C0282420
Sample group as used in the iPSCORE resource paper
Beschreibung

iPSCORE_RESOURCE_SAMPLETYPE

Datentyp

string

Alias
UMLS CUI [1,1]
C2347026
UMLS CUI [1,2]
C0441833
UMLS CUI [1,3]
C0035201
UMLS CUI [1,4]
C0282420
Indicator for whether sample was part of paper studying aberrant iPSC methylation in twins (PMID 28388429)
Beschreibung

SUBSTUDY_ABERRANT_METHYLATION

Datentyp

float

Alias
UMLS CUI [1,1]
C0041427
UMLS CUI [1,2]
C2348585
UMLS CUI [1,3]
C0030761
Indicator for whether sample was part of paper studying expression quantitative trait loci (eQTL) in iPSC (PMID 28388430)
Beschreibung

SUBSTUDY_IPSC_EQTL

Datentyp

float

Alias
UMLS CUI [1,1]
C1522602
UMLS CUI [1,2]
C1292711
UMLS CUI [1,3]
C0282420
UMLS CUI [1,4]
C3826857
UMLS CUI [1,5]
C2717959
Indicator for whether sample was part of paper studying allele-specific NKX2-5 binding in iPSC-derived cardiomyocytes (bioRxiv 351411; doi: https://doi.org/10.1101/351411)
Beschreibung

SUBSTUDY_IPSC_CM_NKX25

Datentyp

float

Alias
UMLS CUI [1,1]
C1522602
UMLS CUI [1,2]
C1292711
UMLS CUI [1,3]
C0282420
UMLS CUI [1,4]
C1413784
UMLS CUI [1,5]
C1624609
UMLS CUI [1,6]
C2717959
UMLS CUI [1,7]
C0225828
Indicator for whether sample was part of paper studying Hi-C in iPSCs and iPSC-derived cardiomyocytes (bioRxiv 352682; doi: https://doi.org/10.1101/352682)
Beschreibung

SUBSTUDY_IPSC_CM_HIC

Datentyp

float

Alias
UMLS CUI [1,1]
C1522602
UMLS CUI [1,2]
C1292711
UMLS CUI [1,3]
C0282420
UMLS CUI [1,4]
C0872186
UMLS CUI [1,5]
C2717959
UMLS CUI [1,6]
C0225828
Indicator for whether sample was part of paper studying the mutational burden of iPSCs (bioRxiv 334870; doi: https://doi.org/10.1101/334870)
Beschreibung

SUBSTUDY_IPSC_SOMATIC

Datentyp

float

Alias
UMLS CUI [1,1]
C1522602
UMLS CUI [1,2]
C1292711
UMLS CUI [1,3]
C0282420
UMLS CUI [1,4]
C0026882
UMLS CUI [1,5]
C2828008
UMLS CUI [1,6]
C2717959
Indicator for whether sample was part of paper examining the utility of iPSC-derived retinal pigment epithelium to study the genetics of eye diseases (bioRxiv 440230; doi: https://doi.org/10.1101/440230)
Beschreibung

SUBSTUDY_RPE_PILOT

Datentyp

float

Alias
UMLS CUI [1,1]
C1522602
UMLS CUI [1,2]
C1292711
UMLS CUI [1,3]
C0282420
UMLS CUI [1,4]
C1524063
UMLS CUI [1,5]
C2717959
UMLS CUI [1,6]
C4540048
UMLS CUI [1,7]
C2603343
UMLS CUI [1,8]
C0017399
UMLS CUI [1,9]
C0015397
Indicator for whether sample was part of paper examining structural variation in iPSCORE
Beschreibung

SUBSTUDY_IPSCORE_SV

Datentyp

float

Alias
UMLS CUI [1,1]
C1522602
UMLS CUI [1,2]
C1292711
UMLS CUI [1,3]
C0282420
UMLS CUI [1,4]
C2717924
UMLS CUI [1,5]
C2717959
Indicator for whether sample was part of paper examining lncrnas in iPSC-CMs
Beschreibung

SUBSTUDY_CM_LNCRNA

Datentyp

float

Alias
UMLS CUI [1,1]
C1522602
UMLS CUI [1,2]
C1292711
UMLS CUI [1,3]
C0282420
UMLS CUI [1,4]
C2982391
UMLS CUI [1,5]
C2717959
UMLS CUI [1,6]
C0225828
Indicator for whether sample was part of paper examining differentiation of iPSCs to iPSC-derived cardiomyocytes or cardiovascular precursor cells (CVPC)
Beschreibung

SUBSTUDY_CVPC_DIFF

Datentyp

float

Alias
UMLS CUI [1,1]
C1522602
UMLS CUI [1,2]
C1292711
UMLS CUI [1,3]
C0282420
UMLS CUI [1,4]
C2945687
UMLS CUI [1,5]
C2717959
UMLS CUI [1,6]
C0225828
Indicator for whether sample was part of paper examining co-accessibility between ATAC sites within iPSCs
Beschreibung

SUBSTUDY_IPSC_COACCESSIBILITY

Datentyp

float

Alias
UMLS CUI [1,1]
C1522602
UMLS CUI [1,2]
C1292711
UMLS CUI [1,3]
C0282420
UMLS CUI [1,4]
C2717959
UMLS CUI [1,5]
C4744539
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Ähnliche Modelle

This sample attributes table includes sample histological type, tumor status, clone and passage number of cell lines, method used to generate iPSCs, analyte type, sample source, genotyping center, sequencing center, array version, array coordinates (n=2 variables; Illumina and paired germline sample), differentiation protocol, chromatin based assay, and indicators if sample was part of a study/paper (n=11 variables; iPSCORE resource, aberrant iPSC methylation in twins, eQTL, allele-specific NKX2-5 binding in iPSC-CMs, Hi-C in iPSCs and iPSC-CMs, mutational burden of iPSCs, iPSC-derived retinal pigment epithelium, structural variation in iPSCORE, lncrnas in iPSC-CMs, differentiation of iPSCs to iPSC-CMs or cardiovascular precursor cells (CVPC), and co-accessibility between ATAC sites within iPSCs), other IDs (n=4 variables; UCSD source tissue, UCSD iPSC clone, UCSD differentiation, WiCell), and sample group as used in iPSCORE resource paper.

6 Formulare
  1. StudyEvent: SEV1
    1. Eligibility Criteria
    2. The subject consent data table contains subject IDs, consent information, and pooled subject IDs.
    3. This pedigree data table contains family relationships in the format of family IDs, subject IDs, father IDs, mother IDs, subjects's sex, twin IDs, and indicator for monozygotic and dizygotic twins.
    4. This data table contains mapping of study subject IDs to sample IDs. Samples are the final preps submitted for genotyping, sequencing, and/or expression data. For example, if one patient (subject ID) gave one sample, and that sample was processed differently to generate 2 sequencing runs, there would be two rows, both using the same subject ID, but having 2 unique sample IDs.
    5. This subject phenotype table includes subject's sex, age at enrollment, race (n=3 variables; self-reported, race/ethnicity grouped by researcher, and genetically similar population groups), heart diagnoses (n=5 variables; primary diagnoses and classification, other diagnoses, comments, and disease ontology), IPSCORE IDs, and indicators if subject was part of a study/paper (n=10 variables; iPSCORE resource, aberrant iPSC methylation in twins, WGS, eQTL, allele-specific NKX2-5 binding in iPSC-CMs, Hi-C in iPSCs and iPSC-CMs, mutational burden of iPSCs, iPSC-derived retinal pigment epithelium, structural variation in IPSCORE, and lncrnas in iPSC-CMs).
    6. This sample attributes table includes sample histological type, tumor status, clone and passage number of cell lines, method used to generate iPSCs, analyte type, sample source, genotyping center, sequencing center, array version, array coordinates (n=2 variables; Illumina and paired germline sample), differentiation protocol, chromatin based assay, and indicators if sample was part of a study/paper (n=11 variables; iPSCORE resource, aberrant iPSC methylation in twins, eQTL, allele-specific NKX2-5 binding in iPSC-CMs, Hi-C in iPSCs and iPSC-CMs, mutational burden of iPSCs, iPSC-derived retinal pigment epithelium, structural variation in iPSCORE, lncrnas in iPSC-CMs, differentiation of iPSCs to iPSC-CMs or cardiovascular precursor cells (CVPC), and co-accessibility between ATAC sites within iPSCs), other IDs (n=4 variables; UCSD source tissue, UCSD iPSC clone, UCSD differentiation, WiCell), and sample group as used in iPSCORE resource paper.
Name
Typ
Description | Question | Decode (Coded Value)
Datentyp
Alias
Item Group
pht006324
C3846158 (UMLS CUI [1,1])
SAMPLE_ID
Item
De-identified unique Sample ID
string
C4684638 (UMLS CUI [1,1])
C2348585 (UMLS CUI [1,2])
Item
Cell or tissue type or subtype of sample
string
C2347026 (UMLS CUI [1,1])
C0007634 (UMLS CUI [1,2])
C0332307 (UMLS CUI [1,3])
C2347026 (UMLS CUI [2,1])
C0007634 (UMLS CUI [2,2])
C0449560 (UMLS CUI [2,3])
C1292533 (UMLS CUI [3,1])
C0332307 (UMLS CUI [3,2])
C1292533 (UMLS CUI [4,1])
C0449560 (UMLS CUI [4,2])
HISTOLOGICAL_TYPE
Code List
Cell or tissue type or subtype of sample
CL Item
Blood (Blood)
CL Item
Fibroblast (Fibroblast)
CL Item
iPSC (iPSC)
CL Item
iPSC-CC (iPSC-CC)
CL Item
iPSC-CM (iPSC-CM)
CL Item
iPSC-CP (iPSC-CP)
CL Item
iPSC-CVPC (iPSC-CVPC)
CL Item
iPSC-MP (iPSC-MP)
CL Item
iPSC-RPE (iPSC-RPE)
Item
Tumor status
text
C0475752 (UMLS CUI [1,1])
IS_TUMOR
Code List
Tumor status
CL Item
No (N)
CLONE
Item
Original clone number from which cell line was expanded
string
C0237753 (UMLS CUI [1,1])
C0205313 (UMLS CUI [1,2])
C1522642 (UMLS CUI [1,3])
C0007600 (UMLS CUI [1,4])
PASSAGE
Item
Passage number of cell line which was analysed
string
C0237753 (UMLS CUI [1,1])
C0007600 (UMLS CUI [1,2])
C0936012 (UMLS CUI [1,3])
DIFFERENTIATION_PROTOCOL
Item
Differentation protocol used for iPSC-derived samples
string
C1507394 (UMLS CUI [1,1])
UCSD_IPSC_CLONE_ID
Item
UUID Identifier for iPSC clone. If the cell is an iPSC-derived cell type, this indicates the source clone.
string
C1710569 (UMLS CUI [2,1])
C2717959 (UMLS CUI [2,2])
C1522642 (UMLS CUI [2,3])
C0449475 (UMLS CUI [2,4])
C0449416 (UMLS CUI [2,5])
Item
The technology used to generate induced pluripotent stem cells (iPSCs)
string
C0039421 (UMLS CUI [1,1])
C0220824 (UMLS CUI [1,2])
REPROGRAMMING_METHOD
Code List
The technology used to generate induced pluripotent stem cells (iPSCs)
CL Item
Retrovirus (Retrovirus)
CL Item
Sendai (Sendai)
UCSD_SOURCE_TISSUE_ID
Item
UUID Identifier for tissue sample of fibroblast, blood or iPSC
string
C1710569 (UMLS CUI [1,1])
C0016030 (UMLS CUI [1,2])
C0178913 (UMLS CUI [1,3])
C2717959 (UMLS CUI [1,4])
UCSD_DIFFERENTIATION_ID
Item
For differentiated samples, this indicates the differentiation replicate
string
C2945687 (UMLS CUI [1,1])
C1883725 (UMLS CUI [1,2])
WICELL_ID
Item
WiCell identifier assigned to iPSC line archived at WiCell Research Institute, Wisconsin, USA
string
C0600091 (UMLS CUI [1,1])
C2717959 (UMLS CUI [1,2])
C0007601 (UMLS CUI [1,3])
Item
Analyte Type
string
C4744818 (UMLS CUI [1,1])
ANALYTE_TYPE
Code List
Analyte Type
CL Item
DNA (DNA)
CL Item
RNA (RNA)
Item
The type of assay performed for chromatin-based assays
string
C0005507 (UMLS CUI [1,1])
C0332307 (UMLS CUI [1,2])
CHROMATIN_ASSAY_TYPE
Code List
The type of assay performed for chromatin-based assays
CL Item
0 (0)
CL Item
ATAC (ATAC)
CL Item
CTCF (CTCF)
CL Item
ChIP-seq (ChIP-seq)
CL Item
H3K27Ac (H3K27Ac)
CL Item
H3K27Ac-Input (H3K27Ac-Input)
CL Item
Hi-C (Hi-C)
CL Item
NKX2-5 (NKX2-5)
Item
Organisation providing original sample
string
C1547541 (UMLS CUI [1,1])
C1999230 (UMLS CUI [1,2])
SAMPLE_SOURCE
Code List
Organisation providing original sample
CL Item
UCSD (UCSD)
Item
Name of the center which conducted genotyping
text
C1301943 (UMLS CUI [1,1])
C0565990 (UMLS CUI [1,2])
C1285573 (UMLS CUI [1,3])
GENOTYPING_CENTER
Code List
Name of the center which conducted genotyping
CL Item
UC San Diego Institute for Genomic Medicine Core Facility (IGM_UCSD)
CL Item
Northwest Genomics Center (NWGC)
Item
Name of the center which conducted sequencing
text
C1301943 (UMLS CUI [1,1])
C0565990 (UMLS CUI [1,2])
C1561491 (UMLS CUI [1,3])
SEQUENCING_CENTER
Code List
Name of the center which conducted sequencing
CL Item
UC San Diego Institute for Genomic Medicine Core Facility (IGM_UCSD)
Item
Version of array
string
C1510941 (UMLS CUI [1,1])
C0333052 (UMLS CUI [1,2])
ARRAY_VERSION
Code List
Version of array
CL Item
HumanCoreExome-12v1-1_A (HumanCoreExome-12v1-1_A)
CL Item
HumanCoreExome-24v1-0_A (HumanCoreExome-24v1-0_A)
CL Item
HumanMethylation450 BeadChip (HumanMethylation450 BeadChip)
ILLUMINA_ARRAY_COORDINATES
Item
Array number and coordinates for arrays
string
C1510941 (UMLS CUI [1,1])
C0237753 (UMLS CUI [1,2])
C0681930 (UMLS CUI [1,3])
MATCHED_GERMLINE_ARRAY
Item
ILLUMINA_ARRAY_COORDINATES of paired germline sample for iPSC
string
C0200345 (UMLS CUI [1,1])
C3845275 (UMLS CUI [1,2])
SUBSTUDY_iPSCORE_RESOURCE
Item
Indicator for whether sample was part of iPSCORE resource paper (PMID 28410642)
float
C1522602 (UMLS CUI [1,1])
C1292711 (UMLS CUI [1,2])
C0035201 (UMLS CUI [1,3])
C0282420 (UMLS CUI [1,4])
Item
Sample group as used in the iPSCORE resource paper
string
C2347026 (UMLS CUI [1,1])
C0441833 (UMLS CUI [1,2])
C0035201 (UMLS CUI [1,3])
C0282420 (UMLS CUI [1,4])
iPSCORE_RESOURCE_SAMPLETYPE
Code List
Sample group as used in the iPSCORE resource paper
CL Item
P3 (P3)
CL Item
iPSCORE_Germline (iPSCORE_Germline)
CL Item
iPSCORE_Germline, P3 (iPSCORE_Germline, P3)
CL Item
iPSCORE_iPSC (iPSCORE_iPSC)
CL Item
iPSCORE_iPSC, P3 (iPSCORE_iPSC, P3)
SUBSTUDY_ABERRANT_METHYLATION
Item
Indicator for whether sample was part of paper studying aberrant iPSC methylation in twins (PMID 28388429)
float
C0041427 (UMLS CUI [1,1])
C2348585 (UMLS CUI [1,2])
C0030761 (UMLS CUI [1,3])
SUBSTUDY_IPSC_EQTL
Item
Indicator for whether sample was part of paper studying expression quantitative trait loci (eQTL) in iPSC (PMID 28388430)
float
C1522602 (UMLS CUI [1,1])
C1292711 (UMLS CUI [1,2])
C0282420 (UMLS CUI [1,3])
C3826857 (UMLS CUI [1,4])
C2717959 (UMLS CUI [1,5])
SUBSTUDY_IPSC_CM_NKX25
Item
Indicator for whether sample was part of paper studying allele-specific NKX2-5 binding in iPSC-derived cardiomyocytes (bioRxiv 351411; doi: https://doi.org/10.1101/351411)
float
C1522602 (UMLS CUI [1,1])
C1292711 (UMLS CUI [1,2])
C0282420 (UMLS CUI [1,3])
C1413784 (UMLS CUI [1,4])
C1624609 (UMLS CUI [1,5])
C2717959 (UMLS CUI [1,6])
C0225828 (UMLS CUI [1,7])
SUBSTUDY_IPSC_CM_HIC
Item
Indicator for whether sample was part of paper studying Hi-C in iPSCs and iPSC-derived cardiomyocytes (bioRxiv 352682; doi: https://doi.org/10.1101/352682)
float
C1522602 (UMLS CUI [1,1])
C1292711 (UMLS CUI [1,2])
C0282420 (UMLS CUI [1,3])
C0872186 (UMLS CUI [1,4])
C2717959 (UMLS CUI [1,5])
C0225828 (UMLS CUI [1,6])
SUBSTUDY_IPSC_SOMATIC
Item
Indicator for whether sample was part of paper studying the mutational burden of iPSCs (bioRxiv 334870; doi: https://doi.org/10.1101/334870)
float
C1522602 (UMLS CUI [1,1])
C1292711 (UMLS CUI [1,2])
C0282420 (UMLS CUI [1,3])
C0026882 (UMLS CUI [1,4])
C2828008 (UMLS CUI [1,5])
C2717959 (UMLS CUI [1,6])
SUBSTUDY_RPE_PILOT
Item
Indicator for whether sample was part of paper examining the utility of iPSC-derived retinal pigment epithelium to study the genetics of eye diseases (bioRxiv 440230; doi: https://doi.org/10.1101/440230)
float
C1522602 (UMLS CUI [1,1])
C1292711 (UMLS CUI [1,2])
C0282420 (UMLS CUI [1,3])
C1524063 (UMLS CUI [1,4])
C2717959 (UMLS CUI [1,5])
C4540048 (UMLS CUI [1,6])
C2603343 (UMLS CUI [1,7])
C0017399 (UMLS CUI [1,8])
C0015397 (UMLS CUI [1,9])
SUBSTUDY_IPSCORE_SV
Item
Indicator for whether sample was part of paper examining structural variation in iPSCORE
float
C1522602 (UMLS CUI [1,1])
C1292711 (UMLS CUI [1,2])
C0282420 (UMLS CUI [1,3])
C2717924 (UMLS CUI [1,4])
C2717959 (UMLS CUI [1,5])
SUBSTUDY_CM_LNCRNA
Item
Indicator for whether sample was part of paper examining lncrnas in iPSC-CMs
float
C1522602 (UMLS CUI [1,1])
C1292711 (UMLS CUI [1,2])
C0282420 (UMLS CUI [1,3])
C2982391 (UMLS CUI [1,4])
C2717959 (UMLS CUI [1,5])
C0225828 (UMLS CUI [1,6])
SUBSTUDY_CVPC_DIFF
Item
Indicator for whether sample was part of paper examining differentiation of iPSCs to iPSC-derived cardiomyocytes or cardiovascular precursor cells (CVPC)
float
C1522602 (UMLS CUI [1,1])
C1292711 (UMLS CUI [1,2])
C0282420 (UMLS CUI [1,3])
C2945687 (UMLS CUI [1,4])
C2717959 (UMLS CUI [1,5])
C0225828 (UMLS CUI [1,6])
SUBSTUDY_IPSC_COACCESSIBILITY
Item
Indicator for whether sample was part of paper examining co-accessibility between ATAC sites within iPSCs
float
C1522602 (UMLS CUI [1,1])
C1292711 (UMLS CUI [1,2])
C0282420 (UMLS CUI [1,3])
C2717959 (UMLS CUI [1,4])
C4744539 (UMLS CUI [1,5])
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